Variant report

Variant	rs4853511
Chromosome Location	chr2:191331027-191331028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:191330813-191331147	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191324546..191326612-chr2:191328587..191331332,2	K562	blood:

Variant related genes	Relation type
MFSD6	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11683734	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687958	1.00[ASN][1000 genomes]
rs11688236	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105680	1.00[ASN][1000 genomes]
rs16832766	1.00[CEU][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745140	1.00[ASN][1000 genomes]
rs2736620	1.00[ASN][1000 genomes]
rs4146925	0.88[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241290	0.88[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303742	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340551	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434029	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468843	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513326	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585059	0.88[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853704	1.00[ASN][1000 genomes]
rs4853706	1.00[ASN][1000 genomes]
rs4853707	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs4853715	0.92[AFR][1000 genomes]
rs5004460	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55942739	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101840	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56278738	1.00[ASN][1000 genomes]
rs6434392	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434393	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6434398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707244	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728161	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736474	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744546	1.00[ASN][1000 genomes]
rs6751217	0.81[AFR][1000 genomes]
rs6755804	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570284	1.00[ASN][1000 genomes]
rs7586287	0.89[CEU][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs7595579	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603228	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605008	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967833	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33134	chr2:191318791-191365710	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191303800-191331600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:191303800-191332600	Weak transcription	Fetal Intestine Large	intestine
3	chr2:191306600-191351000	Weak transcription	Pancreas	Pancrea
4	chr2:191309400-191331400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:191310400-191331600	Weak transcription	Stomach Mucosa	stomach
6	chr2:191311600-191331400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:191311800-191331400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:191311800-191331400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:191311800-191331600	Weak transcription	Ovary	ovary
10	chr2:191312000-191332400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:191313000-191331400	Weak transcription	HSMMtube	muscle
12	chr2:191313000-191333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:191314000-191331600	Weak transcription	Fetal Kidney	kidney
14	chr2:191316600-191331200	Weak transcription	NHLF	lung
15	chr2:191317600-191331600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:191319400-191331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:191319400-191332000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:191322000-191331600	Weak transcription	Fetal Brain Female	brain
19	chr2:191322000-191335800	Weak transcription	Esophagus	oesophagus
20	chr2:191322200-191331400	Weak transcription	Fetal Stomach	stomach
21	chr2:191322600-191335600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:191322800-191331200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:191323000-191334600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:191323200-191332400	Weak transcription	Fetal Intestine Small	intestine
25	chr2:191323200-191335800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:191323400-191333600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:191324000-191331400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:191324600-191332400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:191324800-191331200	Weak transcription	Fetal Lung	lung
30	chr2:191325400-191331400	Weak transcription	Fetal Heart	heart
31	chr2:191325400-191332600	Weak transcription	Gastric	stomach
32	chr2:191325600-191331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:191325600-191335800	Weak transcription	Lung	lung
34	chr2:191325600-191346200	Weak transcription	Right Ventricle	heart
35	chr2:191327600-191353000	Weak transcription	Primary B cells from cord blood	blood
36	chr2:191327800-191331400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:191327800-191331400	Weak transcription	Right Atrium	heart
38	chr2:191327800-191332200	Weak transcription	Aorta	Aorta
39	chr2:191327800-191332200	Weak transcription	Spleen	Spleen
40	chr2:191328000-191331600	Weak transcription	Brain Anterior Caudate	brain
41	chr2:191328200-191331400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:191328800-191332800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:191328800-191334400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:191328800-191334600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:191329000-191331600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:191329400-191331200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:191329400-191331600	Weak transcription	Primary T cells from cord blood	blood
48	chr2:191329400-191331600	Weak transcription	Left Ventricle	heart
49	chr2:191329400-191332200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:191329400-191332600	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links